Human Phenotype Ontology 
Grandparent Node:
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Behavioral abnormality (HP:0000708)help
Parent Node:
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Impairment in personality functioning (HP:0031466)help
Parent Node:
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Mania (HP:0100754)help
..Starting node
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Bipolar affective disorder (HP:0007302)help
Term ID: 7302
Name: Bipolar affective disorder
Synonym: Bipolar disorder
Definition:
Comments:
Reference: HP:0007302
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007302HP:0007302Bipolar affective disorder0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0007302HP:0007302Bipolar affective disorder0ATP2A2 CL E G H488812OMIM:124200Darier-White disease.86
HP:0007302HP:0007302Bipolar affective disorder0CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0007302HP:0007302Bipolar affective disorder0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndromeHP:0040283 - Occasional52
HP:0007302HP:0007302Bipolar affective disorder0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040283 - Occasional45
HP:0007302HP:0007302Bipolar affective disorder0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome.45
HP:0007302HP:0007302Bipolar affective disorder0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0007302HP:0007302Bipolar affective disorder0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0007302HP:0007302Bipolar affective disorder0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0007302HP:0007302Bipolar affective disorder0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0007302HP:0007302Bipolar affective disorder0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040284 - Very rare44
HP:0007302HP:0007302Bipolar affective disorder0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040284 - Very rare76
HP:0007302HP:0007302Bipolar affective disorder0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040283 - Occasional8
HP:0007302HP:0007302Bipolar affective disorder0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0007302HP:0007302Bipolar affective disorder0GRIA1 CL E G H28904571OMIM:6199273
HP:0007302HP:0007302Bipolar affective disorder0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0007302HP:0007302Bipolar affective disorder0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0007302HP:0007302Bipolar affective disorder0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040282 - Frequent950
HP:0007302HP:0007302Bipolar affective disorder0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0007302HP:0007302Bipolar affective disorder0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0007302HP:0007302Bipolar affective disorder0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0007302HP:0007302Bipolar affective disorder0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0007302HP:0007302Bipolar affective disorder0PDGFRB CL E G H51598804OMIM:615007Basal ganglia calcification, idiopathic, 428
HP:0007302HP:0007302Bipolar affective disorder0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare464
HP:0007302HP:0007302Bipolar affective disorder0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare45
HP:0007302HP:0007302Bipolar affective disorder0RPS6KA3 CL E G H619710432ORPHA:276630Symptomatic form of Coffin-Lowry syndrome in female carriersHP:0040283 - Occasional65
HP:0007302HP:0007302Bipolar affective disorder0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0007302HP:0007302Bipolar affective disorder0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare125
HP:0007302HP:0007302Bipolar affective disorder0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0007302HP:0007302Bipolar affective disorder0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare68
HP:0007302HP:0007302Bipolar affective disorder0SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040284 - Very rare164
HP:0007302HP:0007302Bipolar affective disorder0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0007302HP:0007302Bipolar affective disorder0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0007302HP:0007302Bipolar affective disorder0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0007302HP:0007302Bipolar affective disorder0TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0007302HP:0007302Bipolar affective disorder0TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0007302HP:0007302Bipolar affective disorder0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0007302HP:0007302Bipolar affective disorder0TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0007302HP:0007302Bipolar affective disorder0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0007302HP:0007302Bipolar affective disorder0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0007302HP:0007302Bipolar affective disorder0TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0007302HP:0007302Bipolar affective disorder0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare113
HP:0007302HP:0007302Bipolar affective disorder0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0007302HP:0007302Bipolar affective disorder0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30


Genes (42) :ARVCF ATP2A2 CEP85L CHRNA7 CLCN4 COMT COX1 COX2 COX3 DNMT3A FA2H FLI1 GP1BB GRIA1 HIRA JMJD1C MECP2 ND1 ND4 ND5 ND6 PDGFRB POLG POLG2 RPS6KA3 RREB1 RRM2B SEC24C SLC25A4 SMPD1 TBCK TBX1 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TWNK UFD1 VPS16

Diseases (19) :ORPHA:567 OMIM:124200 OMIM:618873 ORPHA:199318 ORPHA:485350 OMIM:300114 ORPHA:550 ORPHA:404443 ORPHA:329308 ORPHA:2308 OMIM:619927 ORPHA:3077 OMIM:615007 ORPHA:254892 ORPHA:276630 ORPHA:77293 ORPHA:488632 OMIM:188400 OMIM:619291
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.